Early infantile ceroid lipofuscinosis -- role of nuclear magnetic resonance in the diagnosis.
DOI:
https://doi.org/10.20344/amp.1810Abstract
The authors report a case of Infantile Neuronal Ceroid Lipofuscinosis and emphasize the role of MRI in the diagnosis and follow-up of the disease describing a severe progressive cerebral atrophy. Clinical findings and laboratory data were reviewed and the importance of palmitoyl-protein thiosterase activity is described.Downloads
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